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Type 1 lissencephaly

disorder
SNOMED 253147000CUI C0431375

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormality of the cerebral white matter
HP:0002500
Agyria diffuse
HP:0031882
Cerebral pachygyria
HP:0001302
Cognitive delay
HP:0001263
Dilated cerebral perivascular spaces
HP:0012520
Dilated cerebral ventricle
HP:0002119
Dull intelligence
HP:0001249
Epilepsy
HP:0001250
Fewer or absent grooves in brain
HP:0001339
Gray matter heterotopias
HP:0002282
Hypoplasia of the brainstem
HP:0002365
Postnatal microcephaly
HP:0005484
Small cerebellum
HP:0001321
Spastic tetraparesis
HP:0001285
Subcortical band heterotopia
HP:0032409
Truncal hypotonia
HP:0008936

Quick Facts

SNOMED CT
253147000
UMLS CUI
C0431375
Fully Specified Name
Type 1 lissencephaly (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
16
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.